intellectual developmental disorder with autism and macrocephaly
MONDO:0014017Mondo
Findings
No curated finding names intellectual developmental disorder with autism and macrocephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typically de novo
- Onset and course
- Infantile onset · Fetal onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
76 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad foreheadHPOHP:0000337
- 4 of 4 reported patients
- ClumsinessHPOHP:0002312
- 1 of 1 reported patient
- EcholaliaHPOHP:0010529
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Late chronotypeHPOHP:0031874
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Open mouthHPOHP:0000194
- 1 of 1 reported patient
- PicaHPOHP:0011856
- 1 of 1 reported patient
- Pointed chinHPOHP:0000307
- 11 of 11 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 1 of 1 reported patient
- Pronoun reversalHPOHP:4000073
- 1 of 1 reported patient
Show the remaining 64
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Recurrent hand flappingHPOHP:0100023
- 1 of 1 reported patient
- Reduced production of gesturesHPOHP:4000081
- 1 of 1 reported patient
- Short attention spanHPOHP:0000736
- 6 of 6 reported patients
- Sleep disturbanceHPOHP:0002360
- 6 of 6 reported patients
- Smooth philtrumHPOHP:0000319
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CHD8HGNC:20153
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: intellectual developmental disorder with autism and macrocephaly
- Also called
- autism, susceptibility to, 18autism, susceptibility to, type 18CHD8 overgrowth syndrome